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E-raamat: Cardioskeletal Myopathies in Children and Young Adults

Edited by (Cincinnati Childrens Hospital, OH, USA), Edited by (Cincinnati Childrens Hospital, OH, USA), Edited by (Cincinnati Childrens Hospital, OH, USA), Edited by (Cincinnati Childrens Hospital, OH, USA)
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  • Ilmumisaeg: 22-Oct-2016
  • Kirjastus: Academic Press Inc
  • Keel: eng
  • ISBN-13: 9780128005804
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Cardioskeletal Myopathies in Children and Young AdultsSuurem pilt
  • Formaat: PDF+DRM
  • Ilmumisaeg: 22-Oct-2016
  • Kirjastus: Academic Press Inc
  • Keel: eng
  • ISBN-13: 9780128005804
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Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011).

Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health.

  • Reveals the link between cardiac muscle disease and skeletal muscle disease
  • Explains how genetics and environmental factors effect muscle function of diverse origins
  • Designates current and novel therapeutic strategies that target both cardiac and skeletal muscle systems

Arvustused

"This comprehensive review includes numerous diagrams and illustrations of the molecular disruption, pathology, and various diagnostic modalities in these myopathies. This is an essential tool for researchers and clinicians involved in their research, diagnosis, and treatment. Score: 89 - 3 Stars" --Doody's

Muu info

A complete bench-to-bedside reference of the growing, complex patient population of children and young adults with heart muscle disease
List of Contibutors
xiii
Cardioskeletal Myopathies: Foreword xv
Section I Physiology and Molecular Basis of Muscle
1 Ventricular Systolic Function
D.A. Kass
Introduction
3(4)
Subcellular Determinants: A Brief Review
3(2)
Beat-to-Beat Regulation of Systolic Function
5(2)
Heart Rate and the Bowditch Effect
7(7)
Measuring Systolic Function
7(3)
Impact of Pericardial Loading on Systolic Function
10(1)
Ventricular--Arterial Interaction
11(1)
Treating Systolic Dysfunction
12(2)
Summary
14(1)
References
14(7)
2 Basics of Skeletal Muscle Function and Normal Physiology
S.C. Brown
C.A. Sewry
Introduction
21(1)
Development of Skeletal Muscle
21(1)
Muscle Growth
22(1)
Skeletal Muscle Architecture, Contractile Apparatus, and Fiber Types
23(4)
Architecture
23(1)
Contractile Apparatus
23(2)
Fiber Types
25(2)
The Basement Membrane and Muscle Fiber Plasma Membrane
27(4)
Basement Membrane
27(1)
Plasma Membrane
28(2)
Muscle Fiber Cytoskeleton
30(1)
Innervation and Blood Supply
30(1)
Proprioreceptors
31(1)
The Neuromuscular and Myotendinous Junctions
31(5)
The Neuromuscular Junction
31(2)
Myotendinous Junction
33(1)
Excitation-Contraction Coupling
34(1)
Sarcoplasm
35(1)
References
36(3)
3 Molecular Pathways in Cardiomyopathies
S.D. Miyamoto
B.L. Stauffer
C.C. Sucharov
Cardiac Muscle Development
39(3)
Transcriptional Control of Cardiac Development
39(3)
Skeletal Muscle Development
42(1)
Early Embryology
42(1)
Transcriptional Control of Skeletal Myogenesis
42(1)
Neurohormonal Regulation in the Heart: β-Adrenergic Receptors and the Renin-Angiotensin-Aldosterone System
43(3)
The β-Adrenergic Receptor (β-AR) System
43(3)
Renin-Angiotensin-Aldosterone-System
46(1)
Sarcomere and Cytoskeleton Organization in Cardiac Muscle
46(2)
Sarcomere/Cytoskeleton Organization and Signaling Within Muscle
46(2)
Metabolism/Metabolic Pathways in Cardiac Development
48(2)
Energy Production Pathways
48(1)
Glycogen Storage Pathways
49(1)
Postnatal Regulation of Metabolism
49(1)
Exercise and Muscle Metabolism
50(1)
General Changes in Metabolism With Heart Failure
50(1)
Autophagy in the Cardiovascular System
50(3)
Autophagy Regulation and Signaling Pathways
51(1)
Autophagy and Heart Failure
52(1)
Apoptosis and Necrosis in the Heart
53(1)
Extrinsic Pathway
53(1)
Intrinsic Pathway
53(1)
Necrosis
53(1)
Endoplasmic Reticulum
54(1)
Protein Misfolding and Heart Failure
54(1)
Epigenetic Regulation of Cardiac Development and Disease
54(3)
DNA Methylation
54(1)
Histone Modifications
55(1)
Noncoding RNAs
55(2)
References
57(8)
4 Abnormal Muscle Pathology and Physiology
S. Bogdanovich
B.B. Gardner
E.M. McNally
Introduction
65(1)
The Muscular Dystrophies
65(2)
Duchenne Muscular Dystrophy
67(1)
Congenital Muscular Dystrophy
68(1)
Limb-Girdle Muscular Dystrophy
69(1)
Emery-Dreifuss Muscular Dystrophy
69(1)
Myotonic Muscular Dystrophy
70(1)
Spinal Muscular Atrophy
70(1)
Mitochondrial Myopathy
70(1)
Friedreich Ataxia
71(1)
Animal Models
71(2)
Anatomy of Breathing in Muscular Dystrophy
73(1)
Inspiratory Muscles in Muscular Dystrophy
74(1)
Animal Models and Breathing Differences
74(1)
Transgene Therapy
75(1)
Cardiorespiratory Disease
76(1)
Conclusion
76(1)
References
76(9)
Section II Diseases of Cardio-Skeletal Phenotypes
5 Dilated Cardiomyopathy and Cardioskeletal Involvement
I. Wilmot
J.L. Jefferies
T.D. Ryan
Definition
85(1)
Epidemiology
85(1)
Natural History
85(1)
Etiology and Pathophysiology
86(11)
Heritable Causes
86(8)
Acquired Cardioskeletal Myopathies
94(3)
Diagnosis
97(4)
Laboratory Testing
98(1)
Imaging Studies
98(1)
Electrophysiology Studies
99(1)
Advanced Studies
100(1)
Management
101(3)
Acquired Cardiomyopathy Management
101(3)
Future Directions
104(1)
Acknowledgment
104(1)
References
104(9)
6 Hypertrophic Cardiomyopathy
A. Axelsson
C.Y. Ho
Introduction
113(1)
Diagnosis and Etiology
113(9)
Presentation and Symptoms
113(2)
Diagnosis
115(1)
Etiology
115(1)
Morphology
116(1)
Features on Cardiac Imaging
117(3)
Pathophysiology
120(2)
Differential Diagnosis
122(2)
Malformation Syndromes
122(1)
Metabolic Storage Disorders
122(1)
Neurodegenerative Disorders
123(1)
Mitochondrial Disorders
123(1)
Endocrine Disorders
123(1)
Athlete's Heart
124(1)
Natural History and Prognosis
124(1)
Sudden Cardiac Death
124(1)
Heart Failure
124(1)
Prognosis in Children
125(1)
Management
125(4)
Treatment of Symptoms
125(2)
Assessing the Risk of Sudden Cardiac Death
127(1)
Recommendations on Exercise Restrictions
128(1)
Genetic Testing and Family Evaluation
129(2)
Genetic Testing
129(1)
Family Evaluation
129(2)
Preclinical Hypertrophic Cardiomyopathy
131(1)
Conclusions and Future Directions
131(1)
References
131(6)
7 Restrictive Cardiomyopathy Associated With Skeletal Myopathies
S.D. Colan
Introduction
137(1)
Terminology
137(1)
Clinical Diagnosis and Course
138(1)
Physiology of Diastole
138(3)
Myocardial and Ventricular Relaxation
138(2)
Myocardial and Ventricular Compliance
140(1)
Ventricular Filling Dynamics
140(1)
Abnormal Diastolic Function
140(1)
Diagnostic Testing for Restrictive Cardiomyopathy
141(3)
Diastolic Filling Indices
141(1)
Tissue-Doppler Diastolic Indices
142(1)
Tissue Doppler and Speckle Tracking Strain and Strain Rate
143(1)
Cardiac Magnetic Resonance Imaging and Cardiac Computed Tomography
144(1)
Cardiac Catheterization
144(1)
Pathophysiology of Restrictive Cardiomyopathy
144(1)
Restrictive Cardiomyopathy in Patients With Skeletal Myopathy
145(3)
Primary Amyloidosis
146(1)
Desmin Myopathy
146(1)
Myofibrillar Myopathy
146(1)
Multicore Myopathy
147(1)
Laminopathies, Including Emery-Dreifuss Muscular Dystrophy
147(1)
Distal Myopathy With Rimmed Vacuoles
147(1)
Mitochondrial Disorders
147(1)
Nonspecific Myopathy
147(1)
Summary
148(1)
References
148(5)
8 Left Ventricular Noncompaction Cardiomyopathy
J.A. Towbin
Introduction
153(1)
Pathology of Left Ventricular Noncompaction
153(1)
Incidence of Left Ventricular Noncompaction
154(1)
Clinical Features and Diagnosis of Left Ventricular Noncompaction
154(1)
Subtypes of Left Ventricular Noncompaction
155(2)
Imaging of Left Ventricular Noncompaction
157(1)
Electrocardiography in Left Ventricular Noncompaction
158(1)
Arrhythmias in Left Ventricular Noncompaction
158(1)
Clinical Genetics of Left Ventricular Noncompaction
159(1)
Molecular Genetics of Left Ventricular Noncompaction
160(4)
Animal Models of LVNC
164(2)
FKBP12 Null Mutation
164(1)
MIB1 Mutant
164(1)
Bmp10 Mutant
164(1)
Tbx20 Mutant
165(1)
Numb/Numb-like Mutant
165(1)
Nkx2-5 Mutant
165(1)
Smad7 Mutant
165(1)
NF-ATc Mutant
165(1)
Jarid2/Jumonji Mutants
166(1)
Tafazzin (TAZ) Mutant
166(1)
Therapy and Outcome
166(1)
Conclusions and Summary
167(1)
References
167(6)
9 Diseases of the Cytoskeleton: The Desminopathies
J. Robbins
Introduction
173(1)
Microfilaments
174(2)
Microtubules
176(1)
Desmin
177(2)
Desmin Function
179(1)
IF-Associated Cardiomyopathies: A Subgroup of Myofibrillar Myopathy
179(1)
The Desmin-Related Cardiomyopathies
180(2)
Animal Models: A Window into Cardiomyopathic Mechanisms
182(1)
Desmin-Associated Proteins: Mechanistic Insights into the Disease
183(2)
PAO Can Cause Heart Disease and Failure
185(1)
Therapeutic Targets
186(1)
References
187(6)
10 Diseases of Cardiac Sarcomeres
R.J. Solaro
Introduction
193(1)
Sarcomere Function in Cardiac Filling and Ejection
194(1)
Cardiac Sarcomeres as a Hub of Cellular Signaling
195(1)
Sarcomere Control Mechanisms as Rate Limiting and Major Contributors to Cardiac Dynamics
196(1)
Signaling Cascades in Diseases of the Sarcomere
197(2)
Phosphorylation as a Modifier of Pathology due to Sarcomere Protein Mutations
199(3)
Tnl Phosphorylation and HCM
202(1)
Redox and Nitrosative Signaling and Cardiac Sarcomeres
202(2)
Therapies Preventing or Reversing Progression to Hypertrophy, Cardiac Dysfunction, and Sudden Death
204(1)
Summary
205(1)
Acknowledgments
205(1)
References
205(8)
11 Diseases of the Intercalated Disc
D.J. Abrams
J.E. Saffitz
Introduction
213(1)
The Role of Desmosomal Proteins in Cardioskeletal Myopathies
214(4)
Evolution of Arrhythmogenic Cardiomyopathy as a Disease Entity
214(1)
Desmoplakin
215(1)
Plakophilin-2
216(1)
Plakoglobin
217(1)
Desmosomal Cadherins: Desmoglein-2 and Desmocollin-2
217(1)
Pathology and Disease Mechanisms in Desmosomal Protein-Related Cardiomyopathies
218(3)
Natural History and Pathology
218(1)
Differential Diagnosis and the Role of Exercise in Desmosomal Protein-Related Cardiomyopathies
218(1)
Redistribution of ICD Proteins in Desmosomal Protein-Related Cardiomyopathies
219(1)
Gap Junction Remodeling in Desmosomal Protein-Related Cardiomyopathies
219(1)
Protein Trafficking Defects in Desmosomal Protein-Related Cardiomyopathies
219(2)
The Role of Nondesmosomal Proteins in Cardioskeletal Myopathies
221(2)
N-cadherin
221(1)
Connexins
221(1)
Voltage-Gated Sodium Channel
221(1)
Coxsackie-Adenoviral Receptor
222(1)
A Disintegrin and Metalloptroteinase-17
222(1)
Desmin
222(1)
Clinical Diagnosis and Management of Cardioskeletal Myopathies
223(4)
Genetic Testing in Cardioskeletal Myopathies
227(1)
References
227(6)
12 Diseases of the Nuclear Membrane
M.E. Sweet
M.R.G. Taylor
L. Mestroni
A Cellular Perspective
233(4)
The Nuclear Membrane
233(1)
Proteins of the NE
233(4)
A Clinical Perspective
237(6)
NE Proteins and Disease
237(1)
Striated Muscle Laminopathies
238(3)
Adipose Tissue Laminopathies and Dysplastic Syndromes
241(1)
Premature Aging Syndromes
241(1)
Peripheral Nerve Laminopathies
242(1)
Genotype-Phenotype Correlations and Overlapping Phenotypes
242(1)
Genotype-Phenotype Correlations in Cardiomyopathies
243(1)
An Organismal Perspective
243(2)
Animal Models and Therapeutics
243(2)
Conclusions
245(1)
References
245(6)
Section III Metabolic Causes of Disease
13 Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood
S. Chanprasert
W.J. Craigen
Introduction
251(1)
Inheritance
252(1)
Normal Cardiac Metabolism
252(1)
Cardiomyopathy due to Mitochondrial Dysfunction
253(2)
Cardiomyopathy due to mtDNA Mutations
255(1)
Sporadic mtDNA Rearrangements
255(1)
Maternally Inherited Point Mutations
255(1)
Cardiomyopathy due to Mutations in Nuclear DNA
256(1)
Defects of Respiratory Chain Subunits and Ancillary Proteins
256(1)
Other Mitochondrial Defects
257(1)
Mitochondrial Fatty Acid Beta Oxidation Defects
258(4)
Primary Carnitine Deficiency
258(1)
CPT IA Deficiency
259(1)
CACT Deficiency
259(1)
CPT2 Deficiency
260(1)
VLCAD Deficiency
260(1)
LCHAD and Trifunctional Protein Deficiency
260(1)
MAD Deficiency
261(1)
References
262(3)
14 Nonmitochondrial Metabolic Cardioskeletal Myopathies
A. El-Gharbawy
J. Vockley
Introduction
265(10)
Metabolic Fuels
265(5)
The Lysosome-Autophagosome System
270(1)
Glycosylation of Muscle Proteins and α-Dystroglycan Complex
271(2)
Main Pathophysiological Mechanisms Involved in Cardioskeletal Myopathies
273(2)
Inborn Errors of Metabolism Associated With Cardiomyopathy and/or Skeletal Muscle Disease Classified by Disorder Group
275(17)
Inborn Errors of Energy Metabolism
275(7)
Disorders Associated With Accumulation of Toxic Intermediates, Crystals, and Minerals
282(2)
Lysosomal Storage Disorders Associated With Cardioskeletal Disorders
284(7)
Congenital Disorders of Clycosylation and Alpha-Dystroglycanopathies
291(1)
Current General Approaches to the Diagnosis of Inborn Errors of Metabolism
291(1)
Laboratory Studies for Confirmation of IEMs
292(2)
Current Therapies of Inborn Errors of Metabolism Affecting the Heart and Muscle
292(2)
Conclusion
294(1)
References
294(13)
Section IV Syndromal and Chromosomal Causes of Disease
15 Cardio-Skeletal Muscle Disease Associated With Syndromes
Z. Khuchua
J.A. Towbin
Introduction
307(1)
Cardiac Physiology and Metabolism
307(2)
Cardiovascular Disorders of Mitochondrial Function
309(3)
Kearns-Sayre Syndrome
309(1)
MERRF Syndrome
309(1)
Leigh Syndrome
309(1)
Sengers Syndrome
309(1)
Barth Syndrome
310(1)
Inborn Errors of Metabolism
311(1)
Fabry Disease
312(1)
Danon Disease
312(4)
Adenosine Monophosphate-Activated Protein Kinase Deficiency
316(1)
Congenital Disorders of Glycosylation
316(1)
Phosphoglucomutase 1 Deficiency
316(1)
Chromosomal Syndromes Associated With Cardiomyopathy
317(1)
Trisomy 21 (Down Syndrome)
317(1)
1p36 Deletion Syndrome
317(1)
Chromosome 8p23.1 Deletion
318(1)
Turner Syndrome
318(1)
Other Chromosomal Disorders Associated With Cardiomyopathy
318(1)
RASopathies: Disorders of the RAS-MAPK Signaling Pathway
318(2)
PTPN11
319(1)
SOS1
319(1)
KRAS
319(1)
NRAS
320(1)
HRAS
320(1)
RAF1
320(1)
Noonan Syndrome With Multiple Lentigines
320(1)
Neurofibromatosis and NF1
320(1)
Coffin-Lowry Syndrome
321(1)
Pierre-Robin Sequence
321(1)
Sotos Syndrome
321(1)
Marfan Syndrome
321(1)
Ehlers-Danlos Syndromes
322(1)
Septo-Optic Dysplasia
322(1)
Alstrom Syndrome
322(1)
Conclusions
322(1)
References
323(8)
16 Cardioskeletal Muscle Disease Associated With Chromosomal Disorders
S.R. Lalani
Congenital Heart Disease and Chromosomal Disorders
331(5)
Down Syndrome (Trisomy 21)
331(3)
Trisomy 18
334(1)
Trisomy 13
334(1)
Turner Syndrome
335(1)
Cri-du-chat Syndrome
335(1)
Wolf-Hirschhom Syndrome
335(1)
Jacobsen Syndrome
336(1)
Cat Eye Syndrome
336(1)
CHD and the Microdeletion/Microduplication Syndromes
336(3)
DiGeorge/Velocardiofacial Syndrome
337(1)
Williams--Beuren Syndrome and 7q11.23 Reciprocal Duplication
337(1)
8p23.1 Deletion Including GATA4
337(1)
1p36 Deletion
337(1)
1q21.1 Deletion and Duplication
338(1)
Smith--Magenis Syndrome and Potocki-Lupski Syndrome
338(1)
Miller-Dieker Syndrome
338(1)
Kleefstra Syndrome
338(1)
Deletions of 15q26
339(1)
17q21.31 Microdeletion Syndrome
339(1)
Conclusion and Future Direction
339(1)
References
339(8)
Section V Cardio-Skeletal Myopathies Associated With Congenital Heart Disease
17 Cardioskeletal Myopathies in Congenital Heart Diseases
J. Mathew
A. Redington
Introduction
347(1)
Exercise Limitation in Acquired Heart Failure
347(2)
Exercise Limitation in Congenital Heart Disease
347(2)
Peripheral Changes in Acquired Heart Failure
349(1)
Skeletal Myopathy and Peripheral Changes in Congenital Heart Disease
350(1)
Systemic Changes in Heart Failure
350(1)
Neurohormonal Activation in Heart Failure Associated With CHD
351(1)
Exercise Training in Acquired Heart Failure
351(1)
Exercise Training in Congenital Heart Disease
351(1)
Future Directions
352(1)
Conclusions
353(1)
References
353(8)
Section VI Future Directions in the Diagnosis and Management of Cardioskeletal Myopathic Disease in Children and Young Adults
18 Future Diagnostic Strategies--Pediatric
H.C. DeSena
B.J. Landis
R.A. Moore
D.S. Spar
W. Whiteside
B.C. Blaxall
Introduction
361(1)
Noninvasive Imaging
361(2)
Advanced 3D Visualization and Printing Techniques
361(2)
Interactive Holographic Modeling
363(1)
Electrophysiology: Advances in Fluoroscopic Radiation Reduction
363(5)
Reducing Radiation Exposure
364(1)
CARTO
364(1)
NavX
365(1)
Noncontact Mapping
365(2)
Cost-Benefit Assessment
367(1)
Emerging Diagnostic Strategies in Cardiac Catheterization
368(3)
3D Rotational Angiography and Multimodality Image Fusion
369(1)
MRI Guided Cardiac Catheterization
370(1)
Implantable Devices for Pressure Monitoring
370(1)
Monitoring in the Cardiac ICU
371(1)
Noninvasive Monitoring
371(1)
Invasive Monitoring
371(1)
Future Directions
372(1)
Integration of Recent Genetic Findings Into Pediatric Cardiology Practice
372(4)
Copy Number Variants
372(2)
Sequence Variants
374(2)
Conclusions
376(1)
References
376(5)
19 Neuromodulation of the Failing Heart
M. Byku
D.L. Mann
Overview of the Cardiac Autonomic Nervous System
381(1)
Sympathovagal Imbalance in Heart Failure
382(2)
Assessment of Autonomic Nervous System Activity
384(3)
NE Spillover Measurement
384(1)
Blood Pressure and Heart Rate Alterations
384(2)
Microneurography
386(1)
123-Metaiodobenzylguanidine Imaging Techniques
386(1)
Therapeutic Modulation of the Autonomic Nervous System in Heart Failure
387(1)
Pharmacological Therapy
387(1)
Skeletal Muscle and Exercise Training
387(1)
Cardiac Resynchronization Therapy
388(1)
Emerging Therapies for Neuromodulation of the Failing Heart
388(5)
Vagus Nerve Stimulation
388(3)
Baroreflex Activation Therapy
391(1)
Spinal Cord Stimulation
391(1)
Renal Denervation
392(1)
Left Cardiac Sympathetic Denervation
392(1)
Future Directions
393(1)
Overview and Conclusion
393(1)
References
393(6)
Index 399
Dr. Jefferies is a recognized international expert in the field of heart muscle disease contributing much of the current literature regarding related genetic mechanisms, clinical investigation, and guideline development. Dr. Blaxall is a renowned translational basic scientist who has significantly contributed the current understanding of myocardial signalling pathways and myocyte hypertrophy. Dr. Chin is a senior investigator in the field of pediatric cardiac transplantation who is actively involved with development of novel methods for diagnosing and treating humeral and cellular rejection. Dr. Towbin is a recognized international expert in the field of heart muscle disease contributing much of the current literature regarding related genetic mechanisms, clinical investigation, and guideline development. Dr. Robbins is a revered expert in the basic science of cardiomyopathic disease, pioneering animal modelling of genetically based heart muscle disease.
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